Trombetta Beniamino, Cruciani Fulvio
Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Rome, Italy.
Istituto Pasteur-Fondazione Cenci Bolognetti, Sapienza Università di Roma, Rome, Italy.
Hum Genet. 2017 May;136(5):605-619. doi: 10.1007/s00439-017-1777-8. Epub 2017 Mar 16.
The presence of large and near-identical inverted repeat sequences (called palindromes) is a common feature of the constitutively haploid sex chromosomes of different species. Despite the fact palindromes originated in a non-recombining context, they have evolved a strong recombinational activity in the form of abundant arm-to-arm gene conversion. Their independent appearance in different species suggests they can have a profound biological significance that has yet to be fully clarified. It has been theorized that natural selection may have favored palindromic organization of male-specific genes and that the establishment of intra-palindrome gene conversion has strong adaptive significance. Arm-to-arm gene conversion allows the efficient removal of deleterious mutations, increases the fixation rate of beneficial mutations and has played an important role in modulating the equilibrium between gene loss and acquisition during Y chromosome evolution. Additionally, a palindromic organization of duplicates could favor the formation of unusual chromatin structures and could optimize the use of gene conversion as a mechanism to maintain the structural integrity of male-specific genes. In this review, we describe the structural features of palindromes on mammalian sex chromosomes and summarize different hypotheses regarding palindrome evolution and the functional benefits of arm-to-arm gene conversion on the unique haploid portion of the nuclear genome.
大型且近乎相同的反向重复序列(称为回文序列)的存在是不同物种组成型单倍体性染色体的一个共同特征。尽管回文序列起源于非重组环境,但它们已通过丰富的臂间基因转换形式进化出强大的重组活性。它们在不同物种中的独立出现表明它们可能具有深远的生物学意义,尚未完全阐明。据推测,自然选择可能有利于雄性特异性基因的回文组织,并且回文内基因转换的建立具有很强的适应性意义。臂间基因转换能够有效去除有害突变,提高有益突变的固定率,并在Y染色体进化过程中调节基因丢失与获得之间的平衡方面发挥了重要作用。此外,重复序列的回文组织可能有利于形成异常的染色质结构,并可以优化基因转换作为维持雄性特异性基因结构完整性机制的使用。在这篇综述中,我们描述了哺乳动物性染色体上回文序列的结构特征,并总结了关于回文序列进化以及臂间基因转换对核基因组独特单倍体部分的功能益处的不同假说。